ウィルソン病 - MGenReviews

ウィルソン病

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B	Pathogenic/Likely pathogenic	13	52509006	52509007	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)	ATP7B	Likely pathogenic	13	52509048	52509048	TG	T	criteria provided, single submitter	ClinGen:CA16041659
Deletion	NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)	ATP7B	Pathogenic/Likely pathogenic	13	52509095	52509095	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603190
Duplication	NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	ATP7B	Likely pathogenic	13	52509139	52509140	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	ATP7B	Pathogenic	13	52509739	52509739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988488
single nucleotide variant	NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52509765	52509765	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274112,UniProtKB:P35670#VAR_009031
single nucleotide variant	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52509795	52509795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260150
single nucleotide variant	NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	ATP7B	Pathogenic	13	52509802	52509802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274170
single nucleotide variant	NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	ATP7B	Pathogenic/Likely pathogenic	13	52509831	52509831	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.4022-2A>C	ATP7B	Likely pathogenic	13	52509833	52509833	T	G	criteria provided, single submitter	-